Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis

por Roos, Andreas, Preusse, Corinna, Hathazi, Denisa, Goebel, Hans-Hilmar, Stenzel, Werner
Publicado 2019

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients

por Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike
Publicado 2019

The Reaction of Oxy Hemoglobin with Nitrite: Mechanism, Antioxidant-Modulated Effect, and Implications for Blood Substitute Evaluation

por Hathazi, Denisa, Scurtu, Florina, Bischin, Cristina, Mot, Augustin, Attia, Amr A. A., Kongsted, Jacob, Silaghi-Dumitrescu, Radu
Publicado 2018

Comparative In Vivo Effects of Hemoglobin-Based Oxygen Carriers (HBOC) with Varying Prooxidant and Physiological Reactivity

por Toma, Vlad Al., Farcaș, Anca D., Roman, Ioana, Sevastre, Bogdan, Hathazi, Denisa, Scurtu, Florina, Damian, Grigore, Silaghi-Dumitrescu, Radu
Publicado 2016

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

por Kollipara, Laxmikanth, Buchkremer, Stephan, Coraspe, José Andrés González, Hathazi, Denisa, Senderek, Jan, Weis, Joachim, Zahedi, René P., Roos, Andreas
Publicado 2017

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

por Issop, Yasmin, Hathazi, Denisa, Khan, Muzamil Majid, Rudolf, Rüdiger, Weis, Joachim, Spendiff, Sally, Slater, Clarke R, Roos, Andreas, Lochmüller, Hanns
Publicado 2018

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome

por Gatz, Christian, Hathazi, Denisa, Münchberg, Ute, Buchkremer, Stephan, Labisch, Thomas, Munro, Ben, Horvath, Rita, Töpf, Ana, Weis, Joachim, Roos, Andreas
Publicado 2019

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3

por Jennings, Matthew J., Hathazi, Denisa, Nguyen, Chi D. L., Munro, Benjamin, Münchberg, Ute, Ahrends, Robert, Schenck, Annette, Eidhof, Ilse, Freier, Erik, Synofzik, Matthis, Horvath, Rita, Roos, Andreas
Publicado 2021

Biochemical and pathological changes result from mutated Caveolin-3 in muscle

por González Coraspe, José Andrés, Weis, Joachim, Anderson, Mary E., Münchberg, Ute, Lorenz, Kristina, Buchkremer, Stephan, Carr, Stephanie, Zahedi, René Peiman, Brauers, Eva, Michels, Hannah, Sunada, Yoshihide, Lochmüller, Hanns, Campbell, Kevin P., Freier, Erik, Hathazi, Denisa, Roos, Andreas
Publicado 2018

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

por Jennings, Matthew J, Kagiava, Alexia, Vendredy, Leen, Spaulding, Emily L, Stavrou, Marina, Hathazi, Denisa, Grüneboom, Anika, De Winter, Vicky, Gess, Burkhard, Schara, Ulrike, Pogoryelova, Oksana, Lochmüller, Hanns, Borchers, Christoph H, Roos, Andreas, Burgess, Robert W, Timmerman, Vincent, Kleopa, Kleopas A, Horvath, Rita
Publicado 2022

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

por Gungor, Serdal, Oktay, Yavuz, Hiz, Semra, Aranguren-Ibáñez, Álvaro, Kalafatcilar, Ipek, Yaramis, Ahmet, Karaca, Ezgi, Yis, Uluc, Sonmezler, Ece, Ekinci, Burcu, Aslan, Mahmut, Yilmaz, Elmasnur, Özgör, Bilge, Balaraju, Sunitha, Szabo, Nora, Laurie, Steven, Beltran, Sergi, MacArthur, Daniel G., Hathazi, Denisa, Töpf, Ana, Roos, Andreas, Lochmuller, Hanns, Vernos, Isabelle, Horvath, Rita
Publicado 2020

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

por Hiz Kurul, Semra, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, Özgör, Bilge, Lochmüller, Angela, Nair, Ashwati, O'Heir, Emily, Lovgren, Alysia K, Maroofian, Reza, Houlden, Henry, Polavarapu, Kiran, Roos, Andreas, Müller, Juliane S, Hathazi, Denisa, Chinnery, Patrick F, Laurie, Steven, Beltran, Sergi, Lochmüller, Hanns, Horvath, Rita
Publicado 2021

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

por Hathazi, Denisa, Griffin, Helen, Jennings, Matthew J, Giunta, Michele, Powell, Christopher, Pearce, Sarah F, Munro, Benjamin, Wei, Wei, Boczonadi, Veronika, Poulton, Joanna, Pyle, Angela, Calabrese, Claudia, Gomez‐Duran, Aurora, Schara, Ulrike, Pitceathly, Robert D S, Hanna, Michael G, Joost, Kairit, Cotta, Ana, Paim, Julia Filardi, Navarro, Monica Machado, Duff, Jennifer, Mattman, Andre, Chapman, Kristine, Servidei, Serenella, Della Marina, Adela, Uusimaa, Johanna, Roos, Andreas, Mootha, Vamsi, Hirano, Michio, Tulinius, Mar, Giri, Mamta, Hoffmann, Eric P, Lochmüller, Hanns, DiMauro, Salvatore, Minczuk, Michal, Chinnery, Patrick F, Müller, Juliane S, Horvath, Rita
Publicado 2020

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

por Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
Publicado 2017

Clinical presentation and proteomic signature of patients with TANGO2 mutations

por Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L., Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra B. T., Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García‐Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A., Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez‐Mallebrera, Cecilia, Taylor, Robert W., Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C., Roos, Andreas, Horvath, Rita
Publicado 2019